Canonical Allele Identifier: CA2620150140

Gene: LUM

Linked Data

• gnomAD v4: 12-91111348-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111348C>T , CM000674.2:g.91111348C>T	GRCh38
NC_000012.11:g.91505125C>T , CM000674.1:g.91505125C>T	GRCh37
NC_000012.10:g.90029256C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.-22+50G>A MANE Select	ENSP00000266718.4:n.-22+50G>A
ENST00000266718.4:c.-22+50G>A	ENSP00000266718.4:n.-22+50G>A
ENST00000546642.1:n.42+50G>A
ENST00000548071.1:n.89+50G>A
NM_002345.3:c.-22+50G>A	NP_002336.1:n.-22+50G>A
NM_002345.4:c.-22+50G>A MANE Select	NP_002336.1:n.-22+50G>A